Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
anoctamin 5
Synonyms:
Tmem16e,  Gdd1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ano5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Ano5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... ORPHA:457050
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... ORPHA:566943
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:620286
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Osteomesopyknosis
Increased bone mineral density, Infertility OMIM:166450
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Creatine Phosphokinase, Elevated Serum
Increased muscle fatiguability, Elevated circulating creatine kinase concentration, Abnormal musc... OMIM:123320
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... ORPHA:3416
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... OMIM:616199
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... OMIM:615424
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... OMIM:619733
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency, Pedal edema ORPHA:75325
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Facial palsy, Elevated circulating creatine kinase concentration, Decreased activity of mitochond... OMIM:616209
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Rhabdomyolysis, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... OMIM:620235
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness OMIM:166700
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip... OMIM:619795
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:601846
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Abnormal pelvis bone morph... ORPHA:73
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... OMIM:614321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... OMIM:254110
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Gnathodiaphyseal Dysplasia
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T... ORPHA:53697
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis OMIM:615198
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Elevated circu... OMIM:608423
Myopathy, Centronuclear, 4
Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n... OMIM:614807
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosi... ORPHA:2790
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... OMIM:259710
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:600081
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:618129
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Muscular Dystrophy, Limb-Girdle, Type 1H
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Adenosine Monophosphate Deaminase Deficiency
Elevated creatine kinase after exercise, Limb muscle weakness, Exercise-induced muscle fatigue ORPHA:45
Inclusion Body Myositis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... ORPHA:611
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im... ORPHA:71267
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Nonaka Myopathy
Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... OMIM:605820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra... OMIM:618992
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Caffey Disease
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... OMIM:114000
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... OMIM:112350
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow... OMIM:277440
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow... OMIM:264700
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Neuropathy, Hereditary Sensory, Type If
Hallux valgus, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Hyporeflexia of lo... OMIM:615632
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Psoriasiform dermatitis, Acne, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Congenital Myopathy 18
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:620246
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:612999
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow... OMIM:301014
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... OMIM:613849
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis ORPHA:178377
Myopathy Due To Myoadenylate Deaminase Deficiency
Increased muscle fatiguability, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Recurrent fractures, Abnormal pe... OMIM:610967
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... OMIM:300554
Welander Distal Myopathy
Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles OMIM:604454
Trichodentoosseous Syndrome
Increased bone mineral density, Taurodontia OMIM:190320
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Myopathy, Vacuolar, With Casq1 Aggregates
Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1-containing inclu... OMIM:616231
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c... OMIM:241530
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... OMIM:184260
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... ORPHA:166119
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... OMIM:618655
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I... OMIM:611705
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... ORPHA:89936
Mitochondrial Myopathy With Diabetes
Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Decre... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... OMIM:609115
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... OMIM:618823
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Ca... OMIM:259700
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Irregular, ... ORPHA:289157
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... OMIM:618848
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... OMIM:136300
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Melorheostosis
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Bone pain, Hyperostosis, A... ORPHA:2485
Mycetoma
Abnormality of the knee, Recurrent bacterial skin infections, Osteomyelitis, Structural foot defo... ORPHA:2583
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... ORPHA:2204
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Exercise-induced muscle fatigue, Increase... ORPHA:681
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Exe... ORPHA:2364
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... ORPHA:3035
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens... OMIM:617974
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Mildly elevated creatine kinase, Fiber type grouping OMIM:614369
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Short long... ORPHA:1423
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion contracture, Increased variab... OMIM:618484
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... OMIM:300009
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... OMIM:607634
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... OMIM:609524
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L... ORPHA:86812
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limitati... OMIM:156550
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra... OMIM:617072
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... OMIM:614856
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va... OMIM:608940
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... OMIM:601954
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica... OMIM:259440
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteri... ORPHA:166272
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... ORPHA:289176
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne... OMIM:181400
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:620138
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi... ORPHA:1427
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Osteomyelitis ORPHA:2218
Combined Oxidative Phosphorylation Deficiency 49
Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial complex I... OMIM:619024
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Congen... ORPHA:77297
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Autoamputation of digits, Osteomyelitis, Osteolytic defects of the phalanges of the hand OMIM:613115
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... OMIM:122860
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Distal amyotroph... OMIM:609200
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... OMIM:620310
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t... ORPHA:85184
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M... OMIM:619518
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... OMIM:618363
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... OMIM:613848
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... OMIM:144750
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... ORPHA:178464
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive protein conce... OMIM:612852
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration OMIM:609500
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ... OMIM:231070
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... ORPHA:970
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Club... ORPHA:1525
Oculopharyngodistal Myopathy 2
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... OMIM:618940
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il... OMIM:215045
Hereditary Continuous Muscle Fiber Activity
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... ORPHA:972
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Sapho Syndrome
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s... ORPHA:793
Familial Expansile Osteolysis
Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex OMIM:174810
Shox-Related Short Stature
Micrognathia, Genu valgum, Skeletal muscle hypertrophy, Short foot, Tibial bowing, High palate, F... ORPHA:314795
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing... OMIM:223800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ... ORPHA:251028
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Increased muscle glycogen content, Hyperurice... OMIM:232800
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Limb mus... ORPHA:486815
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:616812
Oculopharyngeal Muscular Dystrophy
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... ORPHA:270
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Mi... ORPHA:628
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Thin long bone diaphyses... OMIM:616507
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynos... ORPHA:2314
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobility, Osteoporo... ORPHA:2796
Schnitzler Syndrome
Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Bone pain, Arthritis, Incr... ORPHA:37748
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Increased muscle fatiguability, Weakness of facial musculature, Facial palsy OMIM:616323
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... ORPHA:352470
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea... OMIM:255160
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... OMIM:166210
Miyoshi Muscular Dystrophy 1
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... OMIM:254130
Nemaline Myopathy 6
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, Limb muscl... OMIM:609273
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Micrognathia, Recurrent pneumonia... OMIM:618282
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Facial hypotonia, Fatty ... ORPHA:266
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... ORPHA:206549
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Stuve-Wiedemann Syndrome 1
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth tongue, Short tibia... OMIM:601559
Microphthalmia With Limb Anomalies
Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... OMIM:206920
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability, Elevated circulating N,N-dimethylglycine concentration, Elevated ... OMIM:605850
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Elevated circulating creat... OMIM:600969
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Keratitis, Talipes equinova... ORPHA:453510
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability, Elevated circulating creatine kinase concentration ORPHA:243343
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Ck Syndrome
Micrognathia, Retrognathia, Malar flattening, Abnormal cortical bone morphology, Abnormal digit m... OMIM:300831
Hall-Riggs Syndrome
Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp... OMIM:234250
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Mildly ele... ORPHA:401768
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Coxa vara, Increased suscepti... OMIM:610968
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f... ORPHA:1782
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... OMIM:620366
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Tombstone-shaped ... OMIM:108721
Grant Syndrome
Bowing of the long bones, Micrognathia, Open bite, Decreased skull ossification, Joint hyperflexi... ORPHA:2097
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Abnormal circulating creatine kinase concentrati... OMIM:615959
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... ORPHA:1952
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Ragg... ORPHA:276435
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral density, Bowing ... OMIM:166220
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr... ORPHA:1798
Glass Syndrome
Dental crowding, Facial hypotonia, Anterior tibial bowing, Conical tooth, Micrognathia, Arachnoda... OMIM:612313
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Micrognathia, Coxa valga, Cleft palate, Flat acetabular roof, Dow... ORPHA:163649
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability, Myopathy OMIM:613077
Immunodeficiency 27A
Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocy... OMIM:209950
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... OMIM:500013
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal... ORPHA:140
Pycnodysostosis
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... OMIM:265800
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Elevated circulating creatine kinase concentrat... ORPHA:309169
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... ORPHA:99013
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor... OMIM:616294
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal... OMIM:112240
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Large knee, Delayed er... OMIM:619269
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... OMIM:617069
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... OMIM:166200
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat... OMIM:224300
Hypophosphatasia, Childhood
Elevated plasma pyrophosphate, Craniosynostosis, Premature loss of primary teeth, Carious teeth, ... OMIM:241510
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration, Exercise-induced muscle fatigue OMIM:245340
King-Denborough Syndrome
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, B... OMIM:619542
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Elevated circulating creatine kinase c... OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ... OMIM:253601
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... OMIM:613204
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Myop... OMIM:602541
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu... OMIM:619073
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac... ORPHA:93315
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short metatarsal, Enamel hypoplasia, B... OMIM:612463
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long... OMIM:619489
Metaphyseal Dysplasia, Spahr Type
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... OMIM:250400
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Sinusitis, Transient neutropenia, Aplastic anemia, Metaphyseal cho... ORPHA:811
Epiphyseal Dysplasia, Multiple, 1
Pes planus, Short metacarpal, Epiphyseal dysplasia, Joint stiffness, Avascular necrosis of the ca... OMIM:132400
Myopathy, Myofibrillar, 8
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:617258
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... ORPHA:488650
Beemer-Ertbruggen Syndrome
Cryptorchidism, Increased bone mineral density, Thrombocytopenia, Micrognathia ORPHA:1237
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Cryptorchidi... ORPHA:169189
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Flexion contracture of finger, Brachydactyly, Recurrent fractures, Mic... OMIM:601812
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Elevated circulating creatine kinase concentration, Ce... OMIM:248800
Xp21 Deletion Syndrome
Increased muscle fatiguability, Decreased muscle mass, Hypertriglyceridemia, Elevated circulating... ORPHA:261476
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s... ORPHA:2635
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... ORPHA:2768
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Hyperbilirubinemia, Exercise-induced muscle fatigue ORPHA:713
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Pure Mitochondrial Myopathy
Scapular winging, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyotrophy, Shoulder girdl... ORPHA:254854
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ... ORPHA:1486
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Decreased activity of mitochondrial ATP synthase complex, Elevated circulating creatine kinase co... OMIM:609560
Myopathy, Distal, 3
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Amyotrophic Lateral Sclerosis 21
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... OMIM:606070
Monosomy 5P
Microretrognathia, Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Ab... ORPHA:281
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Mildly elevated ... ORPHA:399086
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Skeletal muscle atrophy, Decreased activity of mitochondrial complex IV... OMIM:300816
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... ORPHA:97240
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Ankle con... OMIM:620386
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Facial palsy, Micrognathia, High, narr... ORPHA:2780
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... OMIM:255310
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u... OMIM:118651
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... ORPHA:763
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... ORPHA:1106
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Camurati-Engelmann Disease
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... OMIM:131300
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... OMIM:300696
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... ORPHA:33110
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec... ORPHA:47
Craniometaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Dental crowding, Facial palsy, Metaphyseal widening, Cranial hyperostosis,... OMIM:123000
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... ORPHA:750
Paget Disease Of Bone 3
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis OMIM:167250
Muscle Filaminopathy
Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Abnor... ORPHA:171445
Cartilage-Hair Hypoplasia
Micromelia, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Tibial bowing, Hypocal... ORPHA:175
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... OMIM:608807
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Chronic Recurrent Multifocal Osteomyelitis 3
Palmoplantar pustulosis, Osteomyelitis, Bone pain OMIM:259680
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy, Exercise-induced muscle fatigue ORPHA:369847
Rothmund-Thomson Syndrome
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Calcinosis, Hypo... ORPHA:2909
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Pes pla... OMIM:309350
Solitary Bone Cyst
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Lytic... ORPHA:83468
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho... OMIM:143095
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... ORPHA:59135
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... OMIM:603511
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Elevated circulating creatine kinase concentra... ORPHA:1878
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutane... OMIM:103580
Stormorken Syndrome
Increased muscle fatiguability, Myopathy, Elevated circulating creatine kinase concentration OMIM:185070
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp... ORPHA:2741
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Short 4th ... OMIM:619638
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... OMIM:300717
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... ORPHA:169186
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... OMIM:300718
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, T lymphocytopenia, Increased... ORPHA:443811
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... OMIM:114290
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, El... ORPHA:26791
Neuropathy, Hereditary Sensory, Type Id
Autoamputation of digits, Osteomyelitis, Pes cavus OMIM:613708
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... OMIM:616924
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit... OMIM:611615
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Elevated circulating creatine kinase concentration, Facial palsy, Ragge... OMIM:500009
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... OMIM:617952
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c... OMIM:616052
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating creatine kinase concentration, Myopathy, Limb-girdle muscular dystrophy, Inc... OMIM:612937
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox... ORPHA:2484
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia OMIM:617306
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Subperiosteal bone formation, Hypoplasia of the ovary, Osteoscle... OMIM:609993
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo... ORPHA:536467
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Short metacarpal, Radial bowing,... OMIM:108720
Distal Myotilinopathy
Multiple joint contractures, Elevated circulating creatine kinase concentration, Distal amyotroph... ORPHA:98911
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... OMIM:608340
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Ragged-red muscle fibers, Decreased activity of mitochondrial complex I... OMIM:616794
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio... OMIM:300559
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Hyperalaninemia, Increased muscle fatiguability, M... OMIM:618250
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Elevated circulating creatine kinase concentration, ... OMIM:615368
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... OMIM:211350
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... ORPHA:85435
Familial Hyperprolactinemia
Osteopenia, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Faci... OMIM:176920
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Cortical subperiosteal res... ORPHA:94089
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short metatarsal, Hyperphosphatemia, H... OMIM:612462
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kin... ORPHA:263494
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Bone pai... ORPHA:35687
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy OMIM:610542
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... OMIM:603689
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Myopathy, Ragged-red muscle fibers OMIM:545000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ... OMIM:617070
Rothmund-Thomson Syndrome Type 1
Osteopenia, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, Calcinosis, Sh... ORPHA:221008
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
48,Xyyy Syndrome
Pes planus, Acne, Abnormal foot morphology, Thick lower lip vermilion, Irregularly spaced teeth, ... ORPHA:99329
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... OMIM:608810
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber ... ORPHA:75840
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... OMIM:619473
Immunodeficiency 27B
Osteomyelitis, Salmonella osteomyelitis OMIM:615978
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, D... ORPHA:2410
Fanconi-Like Syndrome
Pancytopenia, Osteomyelitis OMIM:227850
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Central Core Disease
Multiple joint contractures, Elevated circulating creatine kinase concentration, Myopathy, Abnorm... ORPHA:597
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... OMIM:310440
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Sternocleidomastoid amyotrophy, Thenar mu... OMIM:256030
Rothmund-Thomson Syndrome Type 2
Osteopenia, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, C... ORPHA:221016
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E... OMIM:609452
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... OMIM:253700
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Increased circulating IgE level, Br... ORPHA:1163
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... OMIM:619566
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Short metacarpal, Short fi... ORPHA:79444
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Rhizomelia, Recurrent fractures, Micromelia, Bowing of the legs,... OMIM:610682
Endove Syndrome, Limb-Brain Type
Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Triangular tibia, Talar a... OMIM:619218
Mulibrey Nanism
Dental crowding, Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinu... OMIM:253250
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Weakness of facial musculature, Increased endomys... OMIM:620265
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Elevated circulating creatine kinase concent... OMIM:255800
Cleidocranial Dysplasia 1
Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger... OMIM:119600
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing OMIM:126550
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ... OMIM:167320
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Ragged-red mu... ORPHA:352447
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Pes planus, Foot osteomyelitis, Absent Achilles reflex, Hammertoe, Distal lower limb muscle weakn... OMIM:600882
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Pes cavus, Autoamputation of foot OMIM:162400
Raine Syndrome
Mandibular prognathia, Natal tooth, Increased bone mineral density, Bowing of the long bones, Mic... OMIM:259775
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... OMIM:277170
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Eleva... OMIM:607855
Immunodeficiency 31C
Osteopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Osteomyeliti... OMIM:614162
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon... ORPHA:50945
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra... ORPHA:666
Endocrine-Cerebroosteodysplasia
Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Micromelia, ... OMIM:612651
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske... OMIM:619790
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus... ORPHA:1972
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fingers, T... OMIM:619574
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... ORPHA:90652
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Hypophosphatemic Bone Disease
Bowing of the legs, Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Blount Disease, Adolescent
Genu varum, Osteochondritis dissecans, Bowing of the legs OMIM:259200
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... ORPHA:249
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Hip dislocation, Cut... OMIM:203550
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... OMIM:619381
8p23.1 deletion syndrome
Cryptorchidism, Congenital diaphragmatic hernia DECIPHER:39
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype... OMIM:613157
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... ORPHA:355
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia... OMIM:226650
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca... OMIM:269300
Autoimmune Hypoparathyroidism
Increased bone mineral density, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivi... ORPHA:36913
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Bone pain, Iron deficiency anemia, Hypocalcemia, Hypop... ORPHA:89937
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis, Abnormality of the dentition, Micrognat... ORPHA:2323
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Micromelia, Microgna... ORPHA:800
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers, Decreased activity of mitochondrial complex III OMIM:615159
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Delayed skeletal maturation, S... ORPHA:93324
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... ORPHA:37042
Coccidioidomycosis
Abnormality of the spleen, Abnormal long bone morphology, Increased circulating IgG level, Morbil... ORPHA:228123
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Osteomyelitis OMIM:239840
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Proximal muscle weaknes...